TSEN54 and Pontocerebellar Hypoplasia: Association Evidence

At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Provenance

2 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

TSEN54

1 source summary

A gene summary alongside the source descriptions it was distilled from.

Pontocerebellar Hypoplasia

8 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

ClinVar and variant evidence

72 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Literature

17 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Provenance

12 references

Every source and publication cited across this dossier, as one numbered reference list.